S48N (p.Ser48Asn) variant of STAT3 (P40763)
S48N (p.Ser48Asn) in STAT3 (P40763) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- ExAC rs766875947
- TOPMed rs766875947
- gnomAD rs766875947
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.12
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available